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R
i lo n di truy n
Map 13.5 Di truy n gen tr i NST thư ng
TUBEROUS SCLEROSIS
What is tuberous sclerosis?
This condition causes nonmalignant tumours to grow in a variety of organs.
Causes
•
Mutation of TSC1 and TSC2 genes. TSC1 gene codes for hamartin
protein. TCS2 gene codes for tuberin protein.
Signs and symptoms
These depend on where the tumours form. Some examples include:
•
Renal angiomyolipomas: haematuria.
•
Rhabdomyomas: cardiac arrhythmias.
•
Facial angiofibromas: butterfly distribution on face.
•
Ash leaf spots.
•
Coloboma.
Investigations
•
Fundoscopy.
•
Examine skin with Wood’s lamp for ash leaf spots and angiofibromas.
•
Radiology: CT scan, MRI scan, ECHO (rhabdomyoma), renal ultrasound
scan (angiomyolipoma).
Đi u tr
•
Giáo d c ngư i nhà
•
Thu c: Không có đi u tr đ c hi u. Đi u tr bi n ch ng
Bi n ch ng
•
Suy th n
•
Tr ng thái đ ng kinh
•
T vong đ t ng t trong đ ng kinh (SUDEP).
MARFAN’S SYNDROME
What is Marfan’s syndrome?
This is a disorder of connective tissue due to abnormal fibrillin-1 formation.
Causes
•
Mutated FBN1 gene.
Signs and symptoms
A – Arachnodactyly, Astigmatism, Angina, Aortic Aneurysm/dissection.
B – Bullae, Bronchiectasis.
C – Cyanosis, Cysts (spinal), Coarctation of the aorta.
D – Dolichostenomelia, Dislocation of lens.
P – Pectus carinatum/excavatum, high Palate, Palpitations.
Investigations
•
This is a clinical diagnosis.
•
ECG and ECHO to monitor cardiac complications.
•
MRI scan of spinal cord to monitor neurological complications.
Đi u tr
•
Giáo d c ngư i nhà. Tư v n di truy n.
•
Thu c: Không có đi u tr đ c hi u. Đi u tr bi n ch ng.
e.g. ch n beta (n u không có ch ng ch đ nh) đ đi u tr tăng huy t áp
•
Ph u thu t: đ đi u tr bi n ch ng.
Bi n ch ng
•
Phình/ Bóc tách đ ng m ch ch
•
B nh van tim
•
Glaucoma.
•
V o c t s ng
•
Tr m c m.
MAP 13.5
Autosomal
Dominant Conditions (Continued )
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